Genomic Variant Scientist in San Juan Capistrano, CA at Quest Diagnostics

Date Posted: 6/27/2021

Job Snapshot

Job Description

Look for more than answers.

Patients and Physicians rely on our diagnostic testing, information and services to help them make better healthcare decisions. These are often serious decisions with far-reaching consequences, and require sensitivity, tact and a clear dedication to service. It’s about providing clarity and hope.

As a Genomic Variant Scientist, you will work for the world leader in the industry, with a career where you will have the opportunity to collaborate and affect change while expanding your leadership skills and technical knowledge. You can make a real impact in a market that is growing and developing.

Genomic Variant Scientist, the role:

The Genomic Variant Scientist will play a key role in clinical operations and clinical product development for Quest Diagnostics Genomic Services. The Incumbent will join Quest Diagnostics' established variant science program called Variant IQTM, investigating the clinical significance of germline and/or somatic variants in familial/inherited genetic conditions and cancer.  The Genomic Variant Scientist will be responsible for daily processing, analysis, and interpretation of genetic variants identified through WES (Whole Exome Sequencing) and Targeted NGS or Sanger DNA sequencing platforms in a clinical diagnostic laboratory setting.

The Incumbent must process and classify variants in accordance with recommendations from professional society guidance (ASHG, ACMG, ACOG, AMP,ASCO),  regulatory agencies (CAP, FDA, NYSDOH) and company SOPs; maintain communication with external annotation providers and laboratories located within or outside Quest Diagnostics; maintain tracking documents in relation to the variant classification process; report to a manager regarding variant processing status and performance; communicate frequently with the Laboratory Directors, Scientific Directors, Medical Directors, and Genetic Counselors regarding variant classifications and clinical report text.

Job responsibilities:

  • Accurately perform pathogenicity assessments of DNA variants detected in patients by reviewing data collected from internal and external databases as well as published literature as defined in the corresponding Standard Operating Procedure.
  • Read and interpret documents such as peer-reviewed scientific journal articles and curate pertinent data findings in a clear and detail-oriented manner. 
  • Generate report text for high complexity genetic tests in collaboration with genetic directors and counselors.
  • Assist in defining variant curation strategies (e.g. disease allele frequency calculations or gene specific rules), variant assessment process, interpretation process, and reporting process on an ongoing basis.  
  • Develop cross-functional relationships with Genetic Directors, Genomic Science Specialists, and Operations.
  • Support group projects through tasks including but not limited to gathering and/or interpreting data to be published or presented at a national conference; assisting with process improvement projects; or supporting new test development efforts.
  • Perform quality control testing and complies with quality management programs according to written policies and procedures. Recognizes and resolves abnormal, unusual or unexpected results; appropriately identifies issues that require further action by the Manager or Director.
  • Participate in continuing education series including journal club presentations, assay launch presentations, and complex variant discussions/presentations.
  • Independently determines and develops approach to solutions.

To qualify, the ideal candidate will have the following skills and experience:

  • Ph.D. with thesis (or equivalent); MS (or equivalent) with clinical laboratory experience and significant demonstration of capabilities and collaboration; BS with substantial clinical laboratory experience and significant demonstration of capabilities and collaboration.
  • Previous experience with clinical variant assessment in cancer or genetics is desirable. An active California clinical laboratory scientist (CLS) license will be an asset.
  • Ability to adjust priorities according to workload or management needs with guidance of Manager, if needed. 
  • Good collaboration skills with peers. Is a reliable member of the team; treats others with respect; demonstrates a willingness to contribute; demonstrates independent thought; has a positive attitude and strong interpersonal skills.
  • Strong in both written and verbal communication. Well-developed interpersonal skills and the ability to communicate with all levels of business, medical, and technical personnel.
  • Solid skills with Microsoft Office products – Word, Excel, PowerPoint, and Outlook

Apply Today

Join us for competitive benefits and development opportunities in a progressive and supportive environment. Help us improve our service, and the experiences of our patients and colleagues. Work with us and together we can be better.

Your Quest career. Seek it out.

All requirements are subject to possible modifications to reasonably accommodate individuals with disabilities. Quest Diagnostics is an Equal Opportunity Employer: Women / Minorities / Veterans / Disabled / Sexual Orientation / Gender Identity or Citizenship.